NM_001243177.4(ALDOA):c.828C>T (p.Ile276=) AND HNSHA due to aldolase A deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003056710.3
Allele description [Variation Report for NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)]
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)
Condition(s)
- Name:
- HNSHA due to aldolase A deficiency (GSD12)
- Synonyms:
- GLYCOGEN STORAGE DISEASE XII; GSD XII; Glycogen storage disease type 12; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012747; MedGen: C0272066; Orphanet: 57; OMIM: 611881
Assertion and evidence details
Last Updated: Sep 29, 2024